Varaico: Literature-Extracted Genetic Variants

Gene:FCHO1
Variant:p.E269V

FCHO1

68 papers

Pfam Domains

GMIP-like_FCHaa 13–260UCSCGEM-interacting protein-like, FCH domain
FCHaa 15–87UCSCFes/CIP4, and EFC/F-BAR homology domain
muHDaa 626–888UCSCMuniscin C-terminal mu homology domain

Gene Aliases

HGNC Name

FCH and mu domain containing endocytic adaptor 1

HGNC Alias Symbol

KIAA0290

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015122.3
p.E269V
c.806A>T
Surrounding Variants
1 paper
NM_015122.3
p.A286V
c.857C>T
1 paper
NM_015122.3
p.S295S
c.885C>T
1 paper
NM_015122.3
p.R299Q
c.896G>A
1 paper
NM_015122.3
p.V331V
c.993G>A
1 paper
NM_015122.3
p.G264Splc
c.790+3G>A
1 paper
NM_015122.3
p.R250K
c.749G>A
1 paper
NM_015122.3
p.E234V
c.701A>T
1 paper
NM_015122.3
p.S345S
c.1035C>T
1 paper
NM_015122.3
p.M211V
c.631A>G
1 paper
NM_015122.3
p.F349L
c.1045T>C
1 paper
NM_015122.3
p.F349L
c.1047C>A
1 paper
NM_015122.3
p.F349L
c.1047C>G
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